rs147112769

This variant is located in the RPAP2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About RPAP2

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in PERK-mediated unfolded protein response and snRNA transcription. Located in cilium; cytosol; and nucleolus. Part of transcription preinitiation complex. [provided by Alliance of Genome Resources, Jul 2025]

View all RPAP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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